Incidental Mutation 'R8135:Dph7'
| ID |
632207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dph7
|
| Ensembl Gene |
ENSMUSG00000026975 |
| Gene Name |
diphthamine biosynethesis 7 |
| Synonyms |
2810443J12Rik, Wdr85 |
| MMRRC Submission |
067563-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R8135 (G1)
|
| Quality Score |
219.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
24852412-24862175 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24859556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 271
(I271T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028351]
[ENSMUST00000045604]
[ENSMUST00000124383]
[ENSMUST00000126909]
[ENSMUST00000135339]
[ENSMUST00000143253]
[ENSMUST00000153375]
[ENSMUST00000194392]
|
| AlphaFold |
Q9CYU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028351
AA Change: I271T
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000028351
Gene: ENSMUSG00000026975
AA Change: I271T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
74 |
118 |
3e-10 |
BLAST |
|
Blast:WD40
|
128 |
175 |
3e-15 |
BLAST |
|
WD40
|
183 |
223 |
7.43e-1 |
SMART |
|
WD40
|
227 |
267 |
1.08e-4 |
SMART |
|
WD40
|
271 |
310 |
1.37e2 |
SMART |
|
WD40
|
420 |
455 |
1.97e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045604
|
| SMART Domains |
Protein: ENSMUSP00000043561
Gene: ENSMUSG00000036850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRP-L27
|
13 |
125 |
1.3e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124383
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126909
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135339
|
| SMART Domains |
Protein: ENSMUSP00000142067
Gene: ENSMUSG00000026975
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143253
|
| SMART Domains |
Protein: ENSMUSP00000142315
Gene: ENSMUSG00000026975
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153375
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194392
|
| SMART Domains |
Protein: ENSMUSP00000141974
Gene: ENSMUSG00000036850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRP-L27
|
56 |
98 |
1.1e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.7%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Diphthamide is a post-translationally modified histidine residue present in elongation factor 2, and is the target of diphtheria toxin. This gene encodes a protein that contains a WD-40 domain, and is thought to be involved in diphthamide biosynthesis. A similar protein in yeast functions as a methylesterase, converting methylated diphthine to diphthine, which can then undergo amidation to produce diphthamide. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
A |
G |
1: 78,674,712 (GRCm39) |
I420V |
probably benign |
Het |
| Adam7 |
A |
T |
14: 68,754,022 (GRCm39) |
M359K |
probably damaging |
Het |
| Adra1d |
C |
T |
2: 131,403,692 (GRCm39) |
A133T |
probably damaging |
Het |
| B3galnt2 |
T |
A |
13: 14,145,454 (GRCm39) |
|
probably null |
Het |
| Camk1g |
A |
G |
1: 193,036,335 (GRCm39) |
V175A |
possibly damaging |
Het |
| Cfi |
A |
G |
3: 129,648,649 (GRCm39) |
N178D |
probably benign |
Het |
| Csf2rb |
T |
A |
15: 78,232,319 (GRCm39) |
I542K |
possibly damaging |
Het |
| Ctsz |
T |
C |
2: 174,270,946 (GRCm39) |
T183A |
probably benign |
Het |
| Dhx8 |
A |
G |
11: 101,629,090 (GRCm39) |
D213G |
unknown |
Het |
| Edem1 |
G |
T |
6: 108,806,022 (GRCm39) |
E108* |
probably null |
Het |
| Enpp4 |
T |
C |
17: 44,412,226 (GRCm39) |
T328A |
probably benign |
Het |
| Fasl |
A |
G |
1: 161,614,697 (GRCm39) |
V122A |
probably benign |
Het |
| Fut2 |
T |
C |
7: 45,300,566 (GRCm39) |
T69A |
probably damaging |
Het |
| Gaa |
T |
C |
11: 119,169,210 (GRCm39) |
|
probably null |
Het |
| Galnt5 |
T |
A |
2: 57,904,880 (GRCm39) |
V481D |
probably damaging |
Het |
| Gsdma2 |
A |
G |
11: 98,542,872 (GRCm39) |
I211V |
probably benign |
Het |
| H2-M10.4 |
T |
C |
17: 36,772,662 (GRCm39) |
T107A |
probably benign |
Het |
| Iqcg |
T |
A |
16: 32,849,394 (GRCm39) |
K297N |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,452,828 (GRCm39) |
T573A |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,407,180 (GRCm39) |
D1438G |
probably damaging |
Het |
| Nipal2 |
A |
T |
15: 34,678,719 (GRCm39) |
Y41N |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,922,703 (GRCm39) |
S5878T |
possibly damaging |
Het |
| Pde6a |
T |
C |
18: 61,418,996 (GRCm39) |
F791L |
probably damaging |
Het |
| Phip |
A |
T |
9: 82,812,427 (GRCm39) |
N308K |
probably benign |
Het |
| Pigc |
A |
G |
1: 161,798,134 (GRCm39) |
K39E |
possibly damaging |
Het |
| Robo2 |
T |
G |
16: 73,730,048 (GRCm39) |
I1050L |
probably benign |
Het |
| Rps2 |
A |
G |
17: 24,939,409 (GRCm39) |
K54E |
probably benign |
Het |
| Set |
T |
A |
2: 29,959,439 (GRCm39) |
D137E |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,388,075 (GRCm39) |
I100M |
probably benign |
Het |
| Spdye4b |
T |
C |
5: 143,180,777 (GRCm39) |
V81A |
probably damaging |
Het |
| Tbc1d2 |
T |
C |
4: 46,609,071 (GRCm39) |
D722G |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,135,420 (GRCm39) |
D1011V |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,548,446 (GRCm39) |
I573F |
possibly damaging |
Het |
| Vmn1r74 |
T |
A |
7: 11,581,530 (GRCm39) |
C277S |
probably benign |
Het |
| Vwa1 |
T |
A |
4: 155,857,351 (GRCm39) |
D149V |
probably damaging |
Het |
| Zfp397 |
T |
A |
18: 24,089,564 (GRCm39) |
V23E |
probably damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,654,346 (GRCm39) |
D722G |
probably damaging |
Het |
|
| Other mutations in Dph7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00828:Dph7
|
APN |
2 |
24,861,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01021:Dph7
|
APN |
2 |
24,861,935 (GRCm39) |
splice site |
probably null |
|
|
IGL01322:Dph7
|
APN |
2 |
24,855,629 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02393:Dph7
|
APN |
2 |
24,856,609 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03286:Dph7
|
APN |
2 |
24,856,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0614:Dph7
|
UTSW |
2 |
24,858,968 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1169:Dph7
|
UTSW |
2 |
24,856,583 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1696:Dph7
|
UTSW |
2 |
24,859,692 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2000:Dph7
|
UTSW |
2 |
24,861,653 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4274:Dph7
|
UTSW |
2 |
24,853,512 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4738:Dph7
|
UTSW |
2 |
24,853,143 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4740:Dph7
|
UTSW |
2 |
24,853,143 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5475:Dph7
|
UTSW |
2 |
24,858,969 (GRCm39) |
splice site |
probably null |
|
|
R6019:Dph7
|
UTSW |
2 |
24,853,552 (GRCm39) |
nonsense |
probably null |
|
|
R6645:Dph7
|
UTSW |
2 |
24,855,663 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7443:Dph7
|
UTSW |
2 |
24,852,505 (GRCm39) |
missense |
probably benign |
|
|
R7570:Dph7
|
UTSW |
2 |
24,855,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7920:Dph7
|
UTSW |
2 |
24,861,624 (GRCm39) |
missense |
probably benign |
|
|
R9134:Dph7
|
UTSW |
2 |
24,861,720 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9448:Dph7
|
UTSW |
2 |
24,861,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9672:Dph7
|
UTSW |
2 |
24,855,606 (GRCm39) |
missense |
probably benign |
0.29 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATTTGGGTCCAGAAAGTG -3'
(R):5'- GAGTCCCTACCCTTTAGTCAGC -3'
Sequencing Primer
(F):5'- TTACAGAGTTCCAGTGCAGC -3'
(R):5'- AGCTTTATGTCCCCACTTACCAATG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation